Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Published 2019 View Full Article

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Title
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans
Authors
Keywords
inborn errors of metabolism, metabolomics, genomics, lactic acidosis, epilepsy,developmental delay, 2-ketoacid dehydrogenase, lipoylation, lipogenesis, fatty acid oxidation
Journal
Cell Reports
Volume 27, Issue 5, Pages 1376-1386.e6
Publisher
Elsevier BV
Online
2019-04-30
DOI
10.1016/j.celrep.2019.04.005

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